Gene Locus : No gene locus
Mode of mutation : Natural mutant
Disease :
Summary : Natural mutation Congenital myasthenic syndrome associated with endplate AChE deficiency (Type Ic).No attachment to NMJ No asymetric A12 forms Ohno_1998_Proc.Natl.Acad.Sci.U.S.A_95_9654
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction : Endplate Acetylcholinesterase deficiency\; EAD
Interact Gene Locus : human-collq
Xenobiotic sensitivity :
Modification : Congenital myasthenic syndrome || Natural mutation
Torpedo_number : No torpedo number
Kinetic Parameter : No kinetic parameter
News : No news
Comment :
p.Arg282X
| Title : Congenital End-Plate Acetylcholinesterase Deficiency Caused by a Nonsense Mutation and an A-->G Splice-Donor-Site Mutation at Position +3 of the Collagenlike-Tail-Subunit Gene (COLQ): How Does G at Position +3 Result in Aberrant Splicing? - Ohno_1999_Am.J.Hum.Genet_65_635 |
| Author(s) : Ohno K , Brengman JM , Felice KJ , Cornblath DR , Engel AG |
| Ref : American Journal of Human Genetics , 65 :635 , 1999 |
| Abstract : |
| PubMedSearch : Ohno_1999_Am.J.Hum.Genet_65_635 |
| PubMedID: 10441569 |
| Title : Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme - Ohno_1998_Proc.Natl.Acad.Sci.U.S.A_95_9654 |
| Author(s) : Ohno K , Brengman J , Tsujino A , Engel AG |
| Ref : Proceedings of the National Academy of Sciences of the United States of America , 95 :9654 , 1998 |
| Abstract : |
| PubMedSearch : Ohno_1998_Proc.Natl.Acad.Sci.U.S.A_95_9654 |
| PubMedID: 9689136 |